Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman

Intensive Care Medicine

Volumn 27, Issue 12, 2001, Pages 1962-

  Perpoint, T ^a   Argaud, L ^a   Blanc, Q ^a   Robert, D ^a  

^a CROIX ROUSSE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; ORNITHINE CARBAMOYLTRANSFERASE; STEROID; VALPROIC ACID;

ADULT; AMMONIA BLOOD LEVEL; ARTIFICIAL VENTILATION; BRAIN DEATH; CASE REPORT; CLINICAL FEATURE; COMA; CONFUSION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EDEMA; FEMALE; GENE MUTATION; HEMODYNAMIC MONITORING; HUMAN; HYPERAMMONEMIA; INFLAMMATION; INTENSIVE CARE UNIT; LABORATORY TEST; LETTER; NEUROLOGIC EXAMINATION; PETIT MAL; UREA CYCLE;

ADULT; COMA; FATAL OUTCOME; FEMALE; HUMANS; HYPERAMMONEMIA; INTENSIVE CARE UNITS; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE;

EID: 0035210953     PISSN: 03424642     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00134-001-1148-7     Document Type: Letter

References (5)

1. Inborn errors of urea synthesis
2. Natural history of symptomatic partial ornithine transcarbamylase deficiency
3. The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency
4. Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency
5. Urea cycle disorders: Diagnosis, pathophysiology, and therapy